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2025

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Page 1
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S. Rive Le Gouard N, et al. Clin Genet. 2024 Nov;106(5):564-573. doi: 10.1111/cge.14583. Epub 2024 Jun 28. Clin Genet. 2024. PMID: 38940299
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. ...By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc F …
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. ...By modeling pathogenic GATA3 va …
[Diuretic-based therapy].
Presne C, Monge M, Mansour J, Oprisiu R, Choukroun G, Achard JM, Fournier A. Presne C, et al. Nephrol Ther. 2007 Oct;3(6):392-426. doi: 10.1016/j.nephro.2007.04.002. Epub 2007 Jul 27. Nephrol Ther. 2007. PMID: 17919642 Review. French.
This concentration may be decreased by pharmacokinetic factors such as encountered in renal insufficiency or in nephrotic syndrome. These resistance mechanisms of diuretics may be corrected by dose increase, previous diuretic fixation on albumin or warfarin administration. …
This concentration may be decreased by pharmacokinetic factors such as encountered in renal insufficiency or in nephrotic syndrome. T …
Insulin resistance in PCOS.
Diamanti-Kandarakis E. Diamanti-Kandarakis E. Endocrine. 2006 Aug;30(1):13-7. doi: 10.1385/ENDO:30:1:13. Endocrine. 2006. PMID: 17185787 Review.
Polycystic ovary syndrome (PCOS) is the commonest endocrinopathy affecting women of reproductive age, manifested with a variety of clinical signs, none of which is pathognomonic. ...The documentation of the presence of insulin resistance contributed substantially to unrave …
Polycystic ovary syndrome (PCOS) is the commonest endocrinopathy affecting women of reproductive age, manifested with a variety of cl …
Myringoplasty without tympanomeatal flap elevation in children: A systematic review.
Chatelet F, Leboulanger N, Achard S, Couloigner V, Denoyelle F, Simon F. Chatelet F, et al. Eur Ann Otorhinolaryngol Head Neck Dis. 2021 Mar;138(2):93-99. doi: 10.1016/j.anorl.2020.08.011. Epub 2020 Sep 2. Eur Ann Otorhinolaryngol Head Neck Dis. 2021. PMID: 32888888 Free article.
The absence of chronic otitis or co-morbidities (contralateral otitis media with effusion, craniofacial malformations, Down's syndrome) implies that patient selection technique may be necessary to obtain the best results. ...
The absence of chronic otitis or co-morbidities (contralateral otitis media with effusion, craniofacial malformations, Down's syndrome
Inherited sodium avid states.
Achard JM, Hadchouel J, Faure S, Jeunemaitre X. Achard JM, et al. Adv Chronic Kidney Dis. 2006 Apr;13(2):118-23. doi: 10.1053/j.ackd.2006.01.011. Adv Chronic Kidney Dis. 2006. PMID: 16580612 Review.
Familial hypertension with hyperkalemia is a specific syndrome resulting from mutations in at least 3 different genes, among which 2 have been recently identified. ...
Familial hypertension with hyperkalemia is a specific syndrome resulting from mutations in at least 3 different genes, among which 2 …
[Oculomotor syndromes resulting from mesencephalic lesions in man].
Bogousslavsky J. Bogousslavsky J. Rev Neurol (Paris). 1989;145(8-9):546-59. Rev Neurol (Paris). 1989. PMID: 2682933 Review. French.
Three main types of dysfunction may be delineated, which may be combined: 1) intra-axial fascicular syndromes of the third and fourth cranial nerves; 2) nuclear syndromes of the third and fourth cranial nerves; 3) prenuclear and supranuclear syndromes, in whi …
Three main types of dysfunction may be delineated, which may be combined: 1) intra-axial fascicular syndromes of the third and fourth …
[Isolated paralysis of the ocular motor nerve caused by infarction of fascicular fibers].
Collard M, Saint-Val C, Mohr M, Kiesmann M. Collard M, et al. Rev Neurol (Paris). 1990;146(2):128-32. Rev Neurol (Paris). 1990. PMID: 2181587 Review. French.
Intraaxial lesions of this nerve are usually part of the alternate paralysis syndrome. Our case might be the second since the report of Achard and Levi in 1901. Infarction limited to the fascicular fibres of the oculomotor nerve sparing the oculomotor nuclei results …
Intraaxial lesions of this nerve are usually part of the alternate paralysis syndrome. Our case might be the second since the report …